Skip to main content

3 Result(s)

within H. M. Surowy Remove this filter

and

  1. No Access

    Article

    Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin–Siris syndrome-like phenotype

    Chromatin remodeling is a complex process sha** the nucleosome landscape, thereby regulating the accessibility of transcription factors to regulatory regions of target genes and ultimately managing gene expr...

    Nuria C. Bramswig, O. Caluseriu, H.-J. Lüdecke, F. V. Bolduc… in Human Genetics (2017)

  2. No Access

    Article

    Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism

    The ubiquitin pathway is an enzymatic cascade including activating E1, conjugating E2, and ligating E3 enzymes, which governs protein degradation and sorting. It is crucial for many physiological processes. Co...

    Nuria C. Bramswig, H.-J. Lüdecke, M. Pettersson, B. Albrecht… in Human Genetics (2017)

  3. Article

    Open Access

    Interference in transcription of overexpressed genes by promoter-proximal downstream sequences

    Despite a high sequence homology among four human RNAi-effectors Argonaute proteins and their coding sequences, the efficiency of ectopic overexpression of AGO3 and AGO4 coding sequences in human cells is grea...

    A. Turchinovich, H. M. Surowy, A. G. Tonevitsky, B. Burwinkel in Scientific Reports (2016)

    Download PDF (2803 KB) View Article